High-Grade Primary Angiosarcoma of the Breast with MYC Amplification: Case-Report of a 16-Year-Old Patient and Review of the Literature

Special Article – Surgery Case Reports

Austin J Surg. 2019; 6(23): 1225.

High-Grade Primary Angiosarcoma of the Breast with MYC Amplification: Case-Report of a 16-Year-Old Patient and Review of the Literature

Maillard C1*, Duhoux FP2, Galant C3, Libbrecht L3, Lengelé B4, Coyette M4, Fellah L5 and Berlière M1

1Department of Gynaecology, Breast Clinic of King Albert II Cancer Institute, Catholic University of Louvain-La- Neuve, Belgium

2Department of Oncology, Breast Clinic of King Albert II Cancer Institute, Catholic University of Louvain-La- Neuve, Belgium

3Department of Anatomopathology, Breast Clinic of King Albert II Cancer Institute, Catholic University of Louvain- La-Neuve, Belgium

4Department of Plastic Surgery, Breast Clinic of King Albert II Cancer Institute, Catholic University of Louvain- La-Neuve, Belgium

5Department of Radiology, Breast Clinic of King Albert II Cancer Institute, Catholic University of Louvain-La- Neuve, Belgium

*Corresponding author: Maillard C, Breast Clinic of King Albert II Cancer Institute, Catholic University of Louvain-La-Neuve/Cliniques Universitaires Saint-Luc, Avenue Hippocrate 10, 1200 Brussels, Belgium; mailid: maillardcv@gmail.com

Received: September 17, 2019; Accepted: October 25, 2019; Published: November 01, 2019

Abstract

Primary angiosarcoma of the breast is a rare but aggressive disease with a poor 5-year survival. An early and precise diagnosis has to be made in order to improve prognosis. A large vascular breast mass should therefore always be considered as an angiosarcoma until proven otherwise. Referral to tertiary care centre and multidisciplinary management are strongly recommended. There is no standard therapeutic approach but surgery remains the mainstay of angiosarcoma treatment. Patients need a close follow-up because recurrence is frequent and often precocious.

We report the rare case of a 16-year-old patient presenting a primary angiosarcoma of the breast with MYC amplification. Such cases should always be reported, as MYC amplification could in a close future be routinely used as a marker of disease aggressiveness and possibly as a therapeutic target.

Keywords: Primary angiosarcoma of the breast; MYC amplification; Radical surgery; Adjuvant therapy

Abbreviations

PASB: Primary Angiosarcoma of The Breast; ASB: Angiosarcoma of the Breast; RT: Radio Therapy; SASB: Secondary Angiosarcoma of the Breast; FNA: Fine Needle Aspiration; CNB: Core Needle Biopsy; MRI: Magnetic Resonance Imaging; LN: Lymph Node; FISH: Fluorescence In Situ Hybridization; PASH: Pseudoangiomatous Stromal Hyperplasia; FDG: Fluoro Deoxy Glucose; SUVmax: Maximum Standardized Uptake Value; OS: Overall Survival; DFS: Disease Free Survival

Introduction

We here report a rare case of Primary Angiosarcoma of the Breast (PASB) with MYC amplification in a young patient. Angiosarcoma of the Breast (ASB) are malignant vascular neoplasia of the breast parenchyma. They are a rare entity that represents less than 0.5% of all breast cancers [1, 2]. Most ASB occur after previous radiotherapy (RT) or chronic arm lymphoedema but 20% of them are primary lesions [3]. ASB metastasize hematogenously, mainly to liver, lungs, lymph nodes, bone marrow, contralateral breast followed by ovaries, kidney, omentum, adrenal gland, stomach, pancreas, peritoneum, oesophagus and skin [2,3]. Primary and secondary ASB (SASB) differ in clinical presentation and age of diagnosis. PASB usually affects young women, from 20 to 50 years old [1,4] with a median age at onset of 40 in comparison to 70 for SASB [5]. Some authors have tried to use the MYC amplification to discriminate primary from SASB [6]. MYC dysregulation is a well-known oncogenic pathway generating an oncogenic transcription factor that affects diverse cellular pathways, such as angiogenesis [7,8].

Case Description

A 16-year-old female patient was referred to our tertiary care centre for evaluation of a painless mass of the right breast, rapidly enlarging over the last six months. The right breast examination showed two bluish cutaneous nodes associated with a solid 10cm mass fixed to the pectoral muscle causing breast asymmetry (Figure 1). We noted as well a suspicious right axillary lymphadenopathy. Left breast was unremarkable. Overall, patient was allegedly considered in good health. She had no breast trauma history nor personal or family history of breast nor ovarian cancer.